Article
Characterisation of two different nonsense mutations, C6792A and C6792G, causing skipping of exon 37 in the NF1 gene.
Human genetics - 1 Nov 1997
Messiaen L, Callens T, De Paepe A, Craen M, Mortier G
Abstract excerpt
Neurofibromatosis type 1 (NF1), characterised by peripheral neurofibromas, café-au-lait spots and iris Lisch nodules, is one of the most common inherited disorders. We have analysed exons 35 to 49 in 21 unrelated NF1 patients using reverse transcription-polymerase chain reaction and protein truncation analysis. In two unrelated patients we found skipping of exon 37 at the cDNA level. Sequence analysis of genomic...
Topics
- Alleles
- Base Sequence
- Codon, Nonsense
- DNA Mutational Analysis
- DNA Primers
- DNA, Complementary
- DNA, Single-Stranded
- Exons
- Genes, Neurofibromatosis 1
- Humans
- Mutation
- Neurofibromatosis 1
- Nucleic Acid Conformation
- Polymerase Chain Reaction